VCL missense variants in ExAC

VCL gene summary
VCL variants in DCM

The table below lists the VCL missense variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 75871722 c.2801C>T p.A934V missense 0.01213420●●●●●●
2. 75860740 c.1907A>G p.H636R missense 0.00149155●●●●●●
3. 75867074 c.2521G>C p.D841H missense 0.00099002●●●●●●
4. 75849088 c.1157A>G p.K386R missense 0.00075891●●●●●●
5. 75855425 c.1555A>C p.I519L missense 0.00071702●●●●●●
6. 75830746 c.404T>C p.I135T missense 0.00057810●●●●●●
7. 75860806 c.1973T>C p.V658A missense 0.00046783●●●●●●
8. 75855445 c.1575A>C p.E525D missense 0.00045320●●●●●●
9. 75873961 c.2969C>T p.A990V missense 0.00041266●●●●●●
10. 75849841 c.1237G>A p.A413T missense 0.00023890●●●●●●
11. 75832578 c.590C>T p.T197I missense 0.00023067●●●●●●
12. 75871748 c.2827C>G p.P943A missense 0.00018125●●●●●●
13. 75867025 c.2472C>G p.I824M missense 0.00014835●●●●●●
14. 75849898 c.1294C>G p.L432V missense 0.00014827●●●●●●
15. 75871844 c.2923C>T p.R975W missense 0.00013183●●●●●●
16. 75855477 c.1607C>A p.P536H missense 0.00012361●●●●●●
17. 75849901 c.1297C>T p.R433C missense 0.00009885●●●●●●
18. 75848981 c.1050G>A p.M350I missense 0.00009152●●●●●●
19. 75855591 c.1721C>T p.S574F missense 0.00009094●●●●●●
20. 75864950 c.2273G>A p.R758H missense 0.00009067●●●●●●
21. 75855491 c.1621C>G p.L541V missense 0.00009066●●●●●●
22. 75854181 c.1505G>A p.R502Q missense 0.00008514●●●●●●
23. 75854079 c.1403C>T p.T468M missense 0.00008265●●●●●●
24. 75757997 c.32G>A p.S11N missense 0.00008135●●●●●●
25. 75867084 c.2531C>T p.P844L missense 0.00007427●●●●●●
26. 75849796 c.1192C>T p.P398S missense 0.00007416●●●●●●
27. 75856974 c.1756C>T p.R586W missense 0.00007416●●●●●●
28. 75842215 c.787A>T p.T263S missense 0.00006613●●●●●●
29. 75854066 c.1390A>G p.K464E missense 0.00006611●●●●●●
30. 75834566 c.688C>T p.R230C missense 0.00006598●●●●●●
31. 75863601 c.2046A>T p.L682F missense 0.00006589●●●●●●
32. 75758123 c.158A>G p.N53S missense 0.00006433●●●●●●
33. 75874626 c.3227G>A p.R1076Q missense 0.00006212●●●●●●
34. 75854187 c.1511T>C p.I504T missense 0.00006017●●●●●●
35. 75860784 c.1951G>A p.G651S missense 0.00005887●●●●●●
36. 75849799 c.1195A>C p.N399H missense 0.00005768●●●●●●
37. 75871845 c.2924G>A p.R975Q missense 0.00005768●●●●●●
38. 75860839 c.2006G>T p.R669L missense 0.00005356●●●●●●
39. 75860773 c.1940C>T p.A647V missense 0.00005027●●●●●●
40. 75860761 c.1928C>T p.T643M missense 0.00004994●●●●●●
41. 75758095 c.130G>A p.V44M missense 0.00004500●●●●●●
42. 75843268 c.1019C>T p.A340V missense 0.00004192●●●●●●
43. 75854166 c.1490T>C p.I497T missense 0.00004192●●●●●●
44. 75848971 c.1040C>T p.P347L missense 0.00004169●●●●●●
45. 75854052 c.1376C>G p.A459G missense 0.00004131●●●●●●
46. 75842257 c.829C>A p.L277M missense 0.00004126●●●●●●
47. 75849064 c.1133C>T p.T378I missense 0.00004125●●●●●●
48. 75855476 c.1606C>A p.P536T missense 0.00004120●●●●●●
49. 75832553 c.565G>T p.V189L missense 0.00004119●●●●●●
50. 75863585 c.2030C>T p.S677L missense 0.00004119●●●●●●
51. 75854211 c.1535G>A p.R512H missense 0.00003732●●●●●●
52. 75854210 c.1534C>T p.R512C missense 0.00003697●●●●●●
53. 75848962 c.1031G>C p.G344A missense 0.00003338●●●●●●
54. 75865078 c.2401G>A p.A801T missense 0.00003306●●●●●●
55. 75865055 c.2378C>A p.T793N missense 0.00003299●●●●●●
56. 75871719 c.2798C>T p.A933V missense 0.00003298●●●●●●
57. 75855497 c.1627G>A p.A543T missense 0.00003297●●●●●●
58. 75849802 c.1198G>T p.G400C missense 0.00003296●●●●●●
59. 75871788 c.2867T>G p.M956R missense 0.00003295●●●●●●
60. 75860802 c.1969A>G p.T657A missense 0.00002544●●●●●●
61. 75843264 c.1015C>T p.R339C missense 0.00002508●●●●●●
62. 75834503 c.625A>T p.M209L missense 0.00002506●●●●●●
63. 75843255 c.1006G>A p.A336T missense 0.00002493●●●●●●
64. 75871667 c.2746C>T p.P916S missense 0.00002489●●●●●●
65. 75854109 c.1433A>G p.N478S missense 0.00002483●●●●●●
66. 75842216 c.788C>G p.T263S missense 0.00002480●●●●●●
67. 75854070 c.1394A>C p.Q465P missense 0.00002480●●●●●●
68. 75865066 c.2389A>G p.M797V missense 0.00002478●●●●●●
69. 75849046 c.1115G>T p.R372L missense 0.00002477●●●●●●
70. 75857074 c.1856C>T p.A619V missense 0.00002477●●●●●●
71. 75857062 c.1844C>T p.A615V missense 0.00002475●●●●●●
72. 75842251 c.823T>G p.S275A missense 0.00002475●●●●●●
73. 75830814 c.472G>T p.V158F missense 0.00002474●●●●●●
74. 75834567 c.689G>A p.R230H missense 0.00002474●●●●●●
75. 75867068 c.2515G>A p.E839K missense 0.00002474●●●●●●
76. 75877895 c.3373C>T p.R1125C missense 0.00002473●●●●●●
77. 75877789 c.3267G>C p.E1089D missense 0.00002472●●●●●●
78. 75868799 c.2630C>T p.P877L missense 0.00002472●●●●●●
79. 75871827 c.2906C>T p.A969V missense 0.00002472●●●●●●
80. 75843201 c.952C>T p.R318C missense 0.00002472●●●●●●
81. 75867021 c.2468G>A p.R823Q missense 0.00002472●●●●●●
82. 75849891 c.1287T>A p.D429E missense 0.00002471●●●●●●
83. 75871803 c.2882C>A p.P961Q missense 0.00002471●●●●●●
84. 75758032 c.67C>A p.L23M missense 0.00002375●●●●●●
85. 75834503 c.625A>G p.M209V missense 0.00001671●●●●●●
86. 75854152 c.1476C>G p.H492Q missense 0.00001668●●●●●●
87. 75848977 c.1046C>T p.A349V missense 0.00001665●●●●●●
88. 75834519 c.641C>T p.T214I missense 0.00001662●●●●●●
89. 75865105 c.2428G>A p.D810N missense 0.00001657●●●●●●
90. 75864859 c.2182G>A p.E728K missense 0.00001655●●●●●●
91. 75854100 c.1424C>A p.T475N missense 0.00001654●●●●●●
92. 75854078 c.1402A>G p.T468A missense 0.00001653●●●●●●
93. 75849045 c.1114C>T p.R372C missense 0.00001652●●●●●●
94. 75802910 c.238A>C p.K80Q missense 0.00001651●●●●●●
95. 75842234 c.806C>G p.A269G missense 0.00001651●●●●●●
96. 75842281 c.853C>T p.R285C missense 0.00001651●●●●●●
97. 75802896 c.224C>T p.P75L missense 0.00001650●●●●●●
98. 75867081 c.2528C>T p.P843L missense 0.00001650●●●●●●
99. 75864952 c.2275C>T p.R759W missense 0.00001649●●●●●●
100. 75874043 c.3051G>C p.Q1017H missense 0.00001649●●●●●●
101. 75871826 c.2905G>A p.A969T missense 0.00001648●●●●●●
102. 75866997 c.2444A>G p.K815R missense 0.00001648●●●●●●
103. 75855483 c.1613G>A p.R538Q missense 0.00001648●●●●●●
104. 75832499 c.511A>G p.M171V missense 0.00001648●●●●●●
105. 75832551 c.563G>A p.R188Q missense 0.00001648●●●●●●
106. 75843190 c.941C>A p.A314E missense 0.00001648●●●●●●
107. 75849850 c.1246C>T p.R416W missense 0.00001648●●●●●●
108. 75849851 c.1247G>A p.R416Q missense 0.00001648●●●●●●
109. 75855453 c.1583G>A p.R528H missense 0.00001648●●●●●●
110. 75856975 c.1757G>A p.R586Q missense 0.00001648●●●●●●
111. 75866991 c.2438T>C p.L813P missense 0.00001648●●●●●●
112. 75871724 c.2803G>A p.D935N missense 0.00001648●●●●●●
113. 75871728 c.2807C>T p.A936V missense 0.00001648●●●●●●
114. 75871748 c.2827C>A p.P943T missense 0.00001648●●●●●●
115. 75871772 c.2851C>T p.P951S missense 0.00001648●●●●●●
116. 75871784 c.2863T>A p.L955I missense 0.00001648●●●●●●
117. 75871814 c.2893C>T p.P965S missense 0.00001648●●●●●●
118. 75830470 c.282G>A p.M94I missense 0.00001647●●●●●●
119. 75849872 c.1268A>G p.D423G missense 0.00001647●●●●●●
120. 75863657 c.2102A>C p.Q701P missense 0.00001647●●●●●●
121. 75874625 c.3226C>T p.R1076W missense 0.00001529●●●●●●
122. 75757999 c.34A>G p.I12V missense 0.00001016●●●●●●
123. 75757985 c.20G>T p.R7L missense 0.00001007●●●●●●
124. 75854211 c.1535G>T p.R512L missense 0.00000933●●●●●●
125. 75860839 c.2006G>A p.R669Q missense 0.00000893●●●●●●
126. 75860826 c.1993G>C p.V665L missense 0.00000870●●●●●●
127. 75854180 c.1504C>T p.R502W missense 0.00000851●●●●●●
128. 75860803 c.1970C>T p.T657I missense 0.00000850●●●●●●
129. 75854178 c.1502A>G p.Q501R missense 0.00000849●●●●●●
130. 75864818 c.2141A>G p.D714G missense 0.00000839●●●●●●
131. 75860770 c.1937A>C p.K646T missense 0.00000836●●●●●●
132. 75848961 c.1030G>A p.G344R missense 0.00000835●●●●●●
133. 75848970 c.1039C>T p.P347S missense 0.00000834●●●●●●
134. 75860766 c.1933G>A p.E645K missense 0.00000834●●●●●●
135. 75848976 c.1045G>A p.A349T missense 0.00000833●●●●●●
136. 75834513 c.635T>C p.F212S missense 0.00000832●●●●●●
137. 75848980 c.1049T>C p.M350T missense 0.00000832●●●●●●
138. 75843256 c.1007C>T p.A336V missense 0.00000831●●●●●●
139. 75860754 c.1921G>A p.G641S missense 0.00000831●●●●●●
140. 75860748 c.1915A>C p.K639Q missense 0.00000830●●●●●●
141. 75865109 c.2432C>G p.P811R missense 0.00000829●●●●●●
142. 75854111 c.1435C>T p.R479W missense 0.00000828●●●●●●
143. 75860721 c.1888G>A p.A630T missense 0.00000828●●●●●●
144. 75860734 c.1901A>C p.E634A missense 0.00000828●●●●●●
145. 75802856 c.184G>A p.V62I missense 0.00000827●●●●●●
146. 75802857 c.185T>C p.V62A missense 0.00000827●●●●●●
147. 75854103 c.1427A>G p.K476R missense 0.00000827●●●●●●
148. 75855588 c.1718C>G p.A573G missense 0.00000827●●●●●●
149. 75857089 c.1871A>T p.E624V missense 0.00000827●●●●●●
150. 75865084 c.2407G>A p.A803T missense 0.00000827●●●●●●
151. 75865084 c.2407G>C p.A803P missense 0.00000827●●●●●●
152. 75865091 c.2414C>T p.A805V missense 0.00000827●●●●●●
153. 75874106 c.3114G>C p.K1038N missense 0.00000827●●●●●●
154. 75842291 c.863G>C p.S288T missense 0.00000826●●●●●●
155. 75865072 c.2395A>G p.M799V missense 0.00000826●●●●●●
156. 75857079 c.1861A>G p.N621D missense 0.00000826●●●●●●
157. 75867092 c.2539C>T p.P847S missense 0.00000826●●●●●●
158. 75868897 c.2728C>G p.R910G missense 0.00000826●●●●●●
159. 75802869 c.197A>G p.E66G missense 0.00000826●●●●●●
160. 75854031 c.1355G>T p.G452V missense 0.00000826●●●●●●
161. 75857059 c.1841C>T p.T614M missense 0.00000826●●●●●●
162. 75857081 c.1863C>G p.N621K missense 0.00000826●●●●●●
163. 75857083 c.1865G>A p.R622K missense 0.00000826●●●●●●
164. 75865070 c.2393T>C p.V798A missense 0.00000826●●●●●●
165. 75865073 c.2396T>C p.M799T missense 0.00000826●●●●●●
166. 75867110 c.2557C>G p.R853G missense 0.00000826●●●●●●
167. 75868888 c.2719G>T p.D907Y missense 0.00000826●●●●●●
168. 75871682 c.2761G>A p.A921T missense 0.00000826●●●●●●
169. 75874083 c.3091C>T p.R1031W missense 0.00000826●●●●●●
170. 75830824 c.482C>T p.T161I missense 0.00000825●●●●●●
171. 75855560 c.1690G>T p.G564W missense 0.00000825●●●●●●
172. 75871707 c.2786C>T p.A929V missense 0.00000825●●●●●●
173. 75864918 c.2241G>C p.Q747H missense 0.00000825●●●●●●
174. 75865048 c.2371A>C p.S791R missense 0.00000825●●●●●●
175. 75802891 c.219T>A p.D73E missense 0.00000825●●●●●●
176. 75830754 c.412T>G p.C138G missense 0.00000825●●●●●●
177. 75842237 c.809T>C p.L270S missense 0.00000825●●●●●●
178. 75842240 c.812C>T p.A271V missense 0.00000825●●●●●●
179. 75842245 c.817A>C p.I273L missense 0.00000825●●●●●●
180. 75842246 c.818T>C p.I273T missense 0.00000825●●●●●●
181. 75842255 c.827A>G p.K276R missense 0.00000825●●●●●●
182. 75842272 c.844G>T p.G282C missense 0.00000825●●●●●●
183. 75849052 c.1121T>C p.L374P missense 0.00000825●●●●●●
184. 75864883 c.2206A>G p.K736E missense 0.00000825●●●●●●
185. 75864896 c.2219C>T p.A740V missense 0.00000825●●●●●●
186. 75864914 c.2237C>A p.P746H missense 0.00000825●●●●●●
187. 75865042 c.2365G>A p.E789K missense 0.00000825●●●●●●
188. 75865063 c.2386C>T p.P796S missense 0.00000825●●●●●●
189. 75868729 c.2560C>A p.L854I missense 0.00000825●●●●●●
190. 75868866 c.2697G>T p.M899I missense 0.00000825●●●●●●
191. 75873967 c.2975A>G p.K992R missense 0.00000825●●●●●●
192. 75874018 c.3026G>T p.S1009I missense 0.00000825●●●●●●
193. 75874043 c.3051G>T p.Q1017H missense 0.00000825●●●●●●
194. 75874059 c.3067G>A p.A1023T missense 0.00000825●●●●●●
195. 75843196 c.947A>C p.K316T missense 0.00000824●●●●●●
196. 75849857 c.1253T>C p.I418T missense 0.00000824●●●●●●
197. 75856983 c.1765G>A p.E589K missense 0.00000824●●●●●●
198. 75863590 c.2035G>T p.A679S missense 0.00000824●●●●●●
199. 75864950 c.2273G>C p.R758P missense 0.00000824●●●●●●
200. 75871746 c.2825C>A p.P942H missense 0.00000824●●●●●●
201. 75871773 c.2852C>G p.P951R missense 0.00000824●●●●●●
202. 75871796 c.2875A>C p.N959H missense 0.00000824●●●●●●
203. 75832515 c.527A>G p.D176G missense 0.00000824●●●●●●
204. 75855490 c.1620T>G p.D540E missense 0.00000824●●●●●●
205. 75864982 c.2305A>G p.R769G missense 0.00000824●●●●●●
206. 75830460 c.272C>A p.A91E missense 0.00000824●●●●●●
207. 75830797 c.455A>G p.E152G missense 0.00000824●●●●●●
208. 75832492 c.504G>A p.M168I missense 0.00000824●●●●●●
209. 75832496 c.508A>G p.K170E missense 0.00000824●●●●●●
210. 75832536 c.548C>T p.T183I missense 0.00000824●●●●●●
211. 75832553 c.565G>C p.V189L missense 0.00000824●●●●●●
212. 75832573 c.585G>A p.M195I missense 0.00000824●●●●●●
213. 75832580 c.592G>T p.V198L missense 0.00000824●●●●●●
214. 75832580 c.592G>A p.V198M missense 0.00000824●●●●●●
215. 75834579 c.701T>C p.V234A missense 0.00000824●●●●●●
216. 75834582 c.704A>G p.E235G missense 0.00000824●●●●●●
217. 75834597 c.719A>C p.E240A missense 0.00000824●●●●●●
218. 75834624 c.746A>G p.Q249R missense 0.00000824●●●●●●
219. 75843124 c.875G>A p.G292E missense 0.00000824●●●●●●
220. 75843137 c.888G>T p.E296D missense 0.00000824●●●●●●
221. 75843172 c.923A>T p.K308I missense 0.00000824●●●●●●
222. 75843177 c.928G>A p.G310S missense 0.00000824●●●●●●
223. 75843198 c.949G>C p.E317Q missense 0.00000824●●●●●●
224. 75843217 c.968G>A p.G323E missense 0.00000824●●●●●●
225. 75849799 c.1195A>G p.N399D missense 0.00000824●●●●●●
226. 75849809 c.1205C>T p.P402L missense 0.00000824●●●●●●
227. 75849829 c.1225C>G p.R409G missense 0.00000824●●●●●●
228. 75849862 c.1258G>A p.E420K missense 0.00000824●●●●●●
229. 75849896 c.1292T>G p.I431S missense 0.00000824●●●●●●
230. 75849902 c.1298G>A p.R433H missense 0.00000824●●●●●●
231. 75849905 c.1301C>A p.S434Y missense 0.00000824●●●●●●
232. 75849913 c.1309G>A p.E437K missense 0.00000824●●●●●●
233. 75849916 c.1312A>T p.I438L missense 0.00000824●●●●●●
234. 75849938 c.1334T>C p.L445S missense 0.00000824●●●●●●
235. 75849950 c.1346G>T p.R449L missense 0.00000824●●●●●●
236. 75855429 c.1559G>T p.R520L missense 0.00000824●●●●●●
237. 75855467 c.1597A>G p.M533V missense 0.00000824●●●●●●
238. 75855469 c.1599G>C p.M533I missense 0.00000824●●●●●●
239. 75855476 c.1606C>T p.P536S missense 0.00000824●●●●●●
240. 75855495 c.1625T>C p.L542P missense 0.00000824●●●●●●
241. 75855497 c.1627G>T p.A543S missense 0.00000824●●●●●●
242. 75855510 c.1640G>A p.R547Q missense 0.00000824●●●●●●
243. 75857011 c.1793T>C p.V598A missense 0.00000824●●●●●●
244. 75857025 c.1807A>T p.T603S missense 0.00000824●●●●●●
245. 75857025 c.1807A>C p.T603P missense 0.00000824●●●●●●
246. 75857025 c.1807A>G p.T603A missense 0.00000824●●●●●●
247. 75857034 c.1816A>G p.I606V missense 0.00000824●●●●●●
248. 75863593 c.2038C>T p.R680C missense 0.00000824●●●●●●
249. 75863649 c.2094G>A p.M698I missense 0.00000824●●●●●●
250. 75864945 c.2268T>G p.I756M missense 0.00000824●●●●●●
251. 75864962 c.2285G>A p.R762Q missense 0.00000824●●●●●●
252. 75865015 c.2338C>T p.R780C missense 0.00000824●●●●●●
253. 75865030 c.2353G>A p.A785T missense 0.00000824●●●●●●
254. 75866998 c.2445G>C p.K815N missense 0.00000824●●●●●●
255. 75867017 c.2464T>C p.Y822H missense 0.00000824●●●●●●
256. 75867020 c.2467C>T p.R823W missense 0.00000824●●●●●●
257. 75867054 c.2501C>G p.A834G missense 0.00000824●●●●●●
258. 75868745 c.2576C>T p.A859V missense 0.00000824●●●●●●
259. 75868748 c.2579C>T p.P860L missense 0.00000824●●●●●●
260. 75868784 c.2615C>T p.P872L missense 0.00000824●●●●●●
261. 75871721 c.2800G>A p.A934T missense 0.00000824●●●●●●
262. 75871754 c.2833A>G p.M945V missense 0.00000824●●●●●●
263. 75871776 c.2855A>G p.E952G missense 0.00000824●●●●●●
264. 75871787 c.2866A>C p.M956L missense 0.00000824●●●●●●
265. 75871796 c.2875A>G p.N959D missense 0.00000824●●●●●●
266. 75871797 c.2876A>G p.N959S missense 0.00000824●●●●●●
267. 75871803 c.2882C>T p.P961L missense 0.00000824●●●●●●
268. 75871827 c.2906C>A p.A969E missense 0.00000824●●●●●●
269. 75871829 c.2908G>C p.A970P missense 0.00000824●●●●●●
270. 75871830 c.2909C>G p.A970G missense 0.00000824●●●●●●
271. 75871835 c.2914T>A p.S972T missense 0.00000824●●●●●●
272. 75871845 c.2924G>T p.R975L missense 0.00000824●●●●●●
273. 75873999 c.3007C>T p.R1003W missense 0.00000824●●●●●●
274. 75877827 c.3305T>C p.V1102A missense 0.00000824●●●●●●
275. 75877841 c.3319C>T p.R1107W missense 0.00000824●●●●●●
276. 75877862 c.3340A>G p.I1114V missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.